scholarly journals Diagnostic value of chromosomal microarray in fetuses with increased nuchal translucency

2019 ◽  
Vol 53 (4) ◽  
pp. 554-555
Author(s):  
L.‐L. Xu ◽  
D.‐Z. Li
Keyword(s):  
Nuchal Translucency ◽  
Diagnostic Value ◽  
Chromosomal Microarray ◽  
Increased Nuchal Translucency

scholarly journals Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5 mm

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Zhu Zhang ◽  
Ting Hu ◽  
Jiamin Wang ◽  
Qinqin Li ◽  
He Wang ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Chorionic Villus ◽  
Nuchal Translucency ◽  
Diagnostic Value ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Diagnostic Strategy ◽  
Clinical Value ◽  
Prenatal Diagnostic ◽  
Pathogenic Cnvs

Objective. To assess the clinical value of prenatal diagnosis using quantitative fluorescent polymerase chain reaction (QF-PCR) and chromosomal microarray analysis (CMA) for the examination of genomic imbalances in prenatal amniotic fluid samples from fetuses with a nuchal translucency (NT) greater than or equal to 2.5 mm. Materials and Methods. A total of 494 amniotic fluid samples and 5 chorionic villus samples were included in this study, with a fetal NT ≥ 2.5 mm at 11–13+6 weeks of gestation from November 2015 to December 2018. All cases were examined with QF-PCR, and those with normal QF-PCR results were then analyzed by CMA. Results. Of the 499 cases, common aneuploidies were detected by QF-PCR in 61 (12.2%) cases. One case of triploidy, one case of trisomy 21 mosaicism, and two cases of X/XX mosaicism were further confirmed by fluorescence in situ hybridization (FISH). Among the 434 cases with normal QF-PCR results, microarray detected additional pathogenic copy number variants (CNVs) in 4.8% (21/434) of cases. Six cases would have been expected to be detectable by conventional karyotyping because of large deletions/duplications (>10 Mb), leaving fifteen (3.5%, 15/428) cases with pathogenic CNVs only detectable by CMA. Pathogenic CNVs, especially those <10 Mb, were centralized in cases with an NT < 4.5 mm, including 5 pathogenic CNVs in cases with an NT of 2.5–3.5 mm and 7 pathogenic CNVs in cases with an NT of 3.5–4.5 mm. Conclusions. It is rational to use a diagnostic strategy in which CMA is preceded by a less-expensive, rapid method, namely, QF-PCR, to detect common aneuploidies. CMA allows for the detection of a number of pathogenic chromosomal aberrations in fetuses with an NT ≥ 2.5 mm.

scholarly journals Chromosomal Microarray Analysis versus Karyotyping in Fetuses with Increased Nuchal Translucency

2019 ◽  
Vol 7 (3) ◽  
pp. 40 ◽  
Author(s):  
Rita Cicatiello ◽  
Piero Pignataro ◽  
Antonella Izzo ◽  
Nunzia Mollo ◽  
Lucia Pezone ◽  
...  
Keyword(s):  
Microarray Analysis ◽  
Chromosomal Rearrangements ◽  
Prenatal Testing ◽  
Normal Karyotype ◽  
Nuchal Translucency ◽  
Cystic Hygroma ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Chromosomal Anomalies ◽  
Increased Nuchal Translucency

We have carried out a retrospective study of chromosome anomalies associated with increased nuchal translucency (NT) in order to compare yield rates of karyotype, chromosome microarray analysis (CMA), and non-invasive prenatal testing (NIPT) in this condition. Presenting with increased NT or cystic hygroma ≥3.5 mm as an isolated sign, 249 fetuses underwent karyotype and/or CMA from 11 to 18 gestational weeks. Karyotype and fluorescence in situ hybridization (FISH) analyses detected 103 chromosomal anomalies including 95 aneuploidies and eight chromosomal rearrangements or derivatives. Further, seven pathogenic copy number variants (CNV), five likely pathogenic CNVs, and 15 variants of unknown significance (VOUS) were detected by CMA in fetuses with normal karyotype. Genetic testing is now facing new challenges due to results with uncertain clinical impacts. Additional investigations will be necessary to interpret these findings. More than 15% of the anomalies that we have diagnosed with invasive techniques could not be detected by NIPT. It is therefore definitely not recommended in the case of ultrasound anomalies. These results, while corroborating the use of CMA in fetuses with increased NT as a second tier after rapid aneuploidy testing, do not suggest a dismissal of karyotype analysis.

scholarly journals Contribution of Pathogenic CNVs and Noonan Syndrome in Fetuses with Increased Nuchal Translucency and Persistently Increased Nuchal Fold

2021 ◽  
Vol 8 (3) ◽  
Author(s):  
Lin Y ◽  
◽  
Wang H ◽  
Chau MHK ◽  
Lou J ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Genetic Diagnosis ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Second Trimester ◽  
Diagnostic Strategies ◽  
Pathogenic Cnvs ◽  
Increased Nuchal Translucency

Prenatal genetic diagnosis in euploid fetuses with increased Nuchal Translucency (NT) and persistently increased Nuchal Fold (NF) is challenging. The aims of this study is to evaluate the prevalence of pathogenic copy number variants and Noonan Syndrome (NS) in fetuses with increased NT and persistently increased Nuchal Fold (NF) to provide recommendations for pre-natal diagnostic strategies. This is a prospective study from 118 prenatal samples from fetuses with increased NT (≥3.5mm) in first trimester. Multiplex Ligation Dependent Probe Amplification (MLPA), Chromosomal Microarray Analysis (CMA) and karyotyping were conducted. For fetuses with increased NF (≥6mm) in the second trimester with normal karyotype and CMA, targeted Next-Generation Sequencing (NGS) tests for NS were carried out. A total of 118 fetuses had an NT measurement of ≥3.5mm performed MLPA and karyotyping, 89 euploid fetuses were further investigated with CMA, which yielded eight pathogenic CNVs (size ranged from 0.85Mb to 14.5Mb). Twenty fetuses had persistently increased NF at the second trimester. NS testing revealed 3/20 (15%) fetuses had pathogenic variants, and one (5%) with a novel variant of uncertain clinical significance inherited from the father. Our study suggested that NS targeted sequencing facilitates additional genetic diagnosis in fetuses with high NT and persistently increased NF.

The diagnostic value of a detailed first trimester anomaly scan in fetuses with increased nuchal translucency thickness

2019 ◽  
Vol 47 (2) ◽  
pp. 241-246 ◽  
Author(s):  
Ismail Tekesin
Keyword(s):  
Predictive Value ◽  
Multivariate Regression ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Multivariate Regression Analysis ◽  
Detailed Examination ◽  
Diagnostic Value ◽  
Abnormal Karyotype ◽  
Trimester Screening ◽  
Increased Nuchal Translucency

AbstractObjectivesTo assess the diagnostic value of an early anomaly scan in fetuses with increased nuchal translucency (NT) in the prediction of aneuploidy.MethodsIn this study we analyzed the data of pregnant women obtained at their first trimester screening in our unit. The detailed examination routinely includes measurement of NT and a scan for anatomical defects. For fetuses with an NT≥3.5 mm, the diagnostic power of early major sonographic findings (MSF) regarding abnormal karyotype was calculated.ResultsA total of 7352 first trimester examinations were screened. Two hundred and twenty-two fetuses with an NT≥3.5 mm were analyzed. The median gestational age was 12.5 weeks (range 11.0–14.6) and the median NT was 5.1 mm (range 3.5–15.3). MSF were detected in 51.8% of fetuses with increased NT. Among 115 fetuses with MSF, 91 were aneuploid, yielding a positive predictive value for aneuploidy of 79.1%. In the absence of MSF, the negative predictive value was 70.1%. The presence of MSF was significantly predictive for aneuploidy both in bivariate and multivariate regression analysis.ConclusionOur study underlines the importance of a detailed anatomical ultrasound in fetuses with increased NT, as MSF occurred frequently. However, the diagnostic value of MSF regarding aneuploidies appears to be moderate.

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